Novel NCF2 Mutation Causing Chronic Granulomatous Disease

Roth, Idit Lachover; Salamon, Pazit; Freund, Tal; Gadot, Yael; Baron, Shoshana; Hershkovitz, Tova; Shefler, Irit; Hanna, Suhair; Confino‐Cohen, Ronit; Bentur, Lea; Hagin, David

doi:10.1007/s10875-020-00820-8

Cited by 11 publications

(7 citation statements)

References 27 publications

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“…In a previous case-control study, four single-nucleotide polymorphisms within the NCF2 gene were genotyped, and the rs10911362 variants were associated with a decreased TB risk in the Western Chinese Han population (40). NCF2 deficiency resulted in granulomas, and the NCF2 mutation caused diverse and unusual clinical phenotype of chronic granulomatous disease (41,42). In multiple sclerosis, NCF2 was identified to be associated with eleven single nucleotide polymorphisms (43).…”

Section: Discussionmentioning

confidence: 99%

Integrative Identification of Hub Genes Associated With Immune Cells in Atrial Fibrillation Using Weighted Gene Correlation Network Analysis

Yan

Zhu

et al. 2021

Front. Cardiovasc. Med.

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Background: Atrial fibrillation (AF) is the most common tachyarrhythmia in the clinic, leading to high morbidity and mortality. Although many studies on AF have been conducted, the molecular mechanism of AF has not been fully elucidated. This study was designed to explore the molecular mechanism of AF using integrative bioinformatics analysis and provide new insights into the pathophysiology of AF.Methods: The GSE115574 dataset was downloaded, and Cibersort was applied to estimate the relative expression of 22 kinds of immune cells. Differentially expressed genes (DEGs) were identified through the limma package in R language. Weighted gene correlation network analysis (WGCNA) was performed to cluster DEGs into different modules and explore relationships between modules and immune cell types. Functional enrichment analysis was performed on DEGs in the significant module, and hub genes were identified based on the protein-protein interaction (PPI) network. Hub genes were then verified using quantitative real-time polymerase chain reaction (qRT-PCR).Results: A total of 2,350 DEGs were identified and clustered into eleven modules using WGCNA. The magenta module with 246 genes was identified as the key module associated with M1 macrophages with the highest correlation coefficient. Three hub genes (CTSS, CSF2RB, and NCF2) were identified. The results verified using three other datasets and qRT-PCR demonstrated that the expression levels of these three genes in patients with AF were significantly higher than those in patients with SR, which were consistent with the bioinformatic analysis.Conclusion: Three novel genes identified using comprehensive bioinformatics analysis may play crucial roles in the pathophysiological mechanism in AF, which provide potential therapeutic targets and new insights into the treatment and early detection of AF.

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Section: Discussionmentioning

confidence: 99%

Integrative Identification of Hub Genes Associated With Immune Cells in Atrial Fibrillation Using Weighted Gene Correlation Network Analysis

Yan

Zhu

et al. 2021

Front. Cardiovasc. Med.

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“…26 Chronic granulomatous disease is a primary immune deficiency disease, which is easy to cause inflammation of almost all organs, the mutation of NCF2 will lead to different clinical phenotypes of chronic granulomatous disease. 27 This may be the reason for the low survival rate of patients with high expression of NCF2 in this study. Our findings will provide some new clues for the immunotherapy of GBM.…”

Section: Analysis Of Immune Function and Immunotherapy Effect In Pati...mentioning

confidence: 74%

The Significance of the Redox Gene in the Prognosis and Therapeutic Response of Glioma

Niu,

Cao,

Liu

et al. 2024

American Journal of Clinical Oncology

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Objective: Glioblastoma (GBM) is a fatal adult central nervous system tumor. Due to its high heterogeneity, the survival rate and prognosis of patients are poor. Thousands of people die of this disease every year all over the world. At present, the treatment of GBM is mainly through surgical resection and the combination of later drugs, radiotherapy, and chemotherapy. An abnormal redox system is involved in the malignant progression and treatment tolerance of glioma, which is the main reason for poor survival and prognosis. The construction of a GBM redox-related prognostic model may be helpful in improving the redox immunotherapy and prognosis of GBM. Methods: Based on glioma transcriptome data and clinical data from The Cancer Genome Atlas, databases, a risk model of redox genes was constructed by univariate and multivariate Cox analysis. The good prediction performance of the model was verified by the internal validation set of The Cancer Genome Atlas, and the external data of Chinese Glioma Genome Atlas. Results: The results confirmed that the higher the risk score, the worse the survival of patients. Age and isocitrate dehydrogenase status were significantly correlated with risk scores. The analysis of immune infiltration and immunotherapy found that there were significant differences in the immune score, matrix score, and ESTIMATE score between high and low-risk groups. reverse transcription polymerase chain reaction and immunohistochemical staining of glioma samples confirmed the expression of the hub gene. Conclusion: Our study suggests that the 5 oxidative-related genes nitricoxidesynthase3, NCF2, VASN, FKBP1B, and TXNDC2 are hub genes, which may provide a reliable prognostic tool for glioma clinical treatment.

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“…Intragenic homozygous duplications have been previously reported to cause recessive disorders, although more rarely than other types of structural variants 27 . Intragenic duplications expected to shift the reading frame or to cause other profound reading frame alterations have been previously reported as (likely) pathogenic for immune [28][29][30] and non-immune disorders 31,32 .…”

Section: Discussionmentioning

confidence: 97%

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

et al. 2021

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In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diagnosis of otherwise unresolved cases. Here, we report two siblings, offspring of consanguineous parents, who experienced similar severe events encompassing early onset of colitis, lymphoproliferation, and hypogammaglobulinemia, typical of lipopolysaccharide-responsive and beige-like anchor (LRBA) or cytotoxic T lymphocyte antigen 4 (CTLA4) deficiencies. Gene-panel sequencing, comparative genomic hybridization (CGH) array, and WES failed to reveal a genetic aberration in relevant genes. WGS of these patients detected a 12.3 kb homozygous tandem duplication that was absent in control cohorts and is predicted to disrupt the reading frame of the LRBA gene. The variant was validated by PCR and Sanger sequencing, demonstrating the presence of the junction between the reference and the tandem-duplicated sequence. Droplet digital PCR (ddPCR) further confirmed the copy number in the unaffected parents (CN = 3, heterozygous) and affected siblings (CN = 4, homozygous), confirming the expected segregation pattern. In cases of suspected inherited immunodeficiency, WGS may reveal a mutation when other methods such as microarray and WES analysis failed to detect an aberration.

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Novel NCF2 Mutation Causing Chronic Granulomatous Disease

Cited by 11 publications

References 27 publications

Integrative Identification of Hub Genes Associated With Immune Cells in Atrial Fibrillation Using Weighted Gene Correlation Network Analysis

Integrative Identification of Hub Genes Associated With Immune Cells in Atrial Fibrillation Using Weighted Gene Correlation Network Analysis

The Significance of the Redox Gene in the Prognosis and Therapeutic Response of Glioma

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

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